Document Detail


Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.
MedLine Citation:
PMID:  21907895     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Monosomy 1p36 is a clinically recognizable syndrome that is considered to be the most common terminal deletion syndrome. It has characteristic clinical features that include craniofacial dysmorphism, congenital anomalies, hearing deficits, developmental delay, mental retardation, hypotonia, seizures, and brain anomalies. Brain anomalies in patients with 1p36 deletion are frequent but inconsistent. To date, 2 cases with monosomy 1p36 associated with periventricular nodular heterotopia (PNH) have been reported. We report a 2-month-old boy with multiple congenital anomalies; brain magnetic resonance imaging revealed PNH. The first 2 described cases were pure terminal deletions, whereas our patient carried unbalanced translocation due to an adjacent 1 segregation of a balanced maternal translocation, resulting in monosomy 1p36.3 and trisomy 19p13.3 identified by whole-genome array comparative genomic hybridization analysis. Our patient, with a smaller deletion that the 2 previously reported cases, can help narrow the critical region for PNH in association with the 1p36 deletion. Several potential candidate genes are discussed.
Authors:
Maria Descartes; Fady M Mikhail; Judith C Franklin; Tony M McGrath; Martina Bebin
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  45     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2011 Oct 
Date Detail:
Created Date:  2011-09-12     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  274-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Affiliation:
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.
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